ClinVar Miner

Submissions for variant NM_001330368.2(C11orf65):c.641-6794dup (rs797045030)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000191063 SCV000245453 pathogenic Ataxia-telangiectasia syndrome 2014-09-22 criteria provided, single submitter clinical testing This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory in trans with a pathogenic variant [V2424G] in a 27-year-old female with ataxia and elevated AFP
Invitae RCV000191063 SCV000547024 pathogenic Ataxia-telangiectasia syndrome 2019-02-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser2017Lysfs*16) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATM-related conditions. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000575568 SCV000665429 pathogenic Hereditary cancer-predisposing syndrome 2017-09-13 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV000575568 SCV000903396 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing

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